Recombinant erythroid Kruppel-like factor fused to GATA1 up-regulates delta- and gamma-globin expression in erythroid cells

Blood. 2011 Mar 17;117(11):3045-52. doi: 10.1182/blood-2010-07-294751. Epub 2011 Jan 10.

Abstract

The β-hemoglobinopathies sickle cell disease and β-thalassemia are among the most common human genetic disorders worldwide. Hemoglobin A2 (HbA2, α₂δ₂) and fetal hemoglobin (HbF, α₂γ₂) both inhibit the polymerization of hemoglobin S, which results in erythrocyte sickling. Expression of erythroid Kruppel-like factor (EKLF) and GATA1 is critical for transitioning hemoglobin from HbF to hemoglobin A (HbA, α₂β₂) and HbA2. The lower levels of δ-globin expression compared with β-globin expression seen in adulthood are likely due to the absence of an EKLF-binding motif in the δ-globin proximal promoter. In an effort to up-regulate δ-globin to increase HbA2 expression, we created a series of EKLF-GATA1 fusion constructs composed of the transactivation domain of EKLF and the DNA-binding domain of GATA1, and then tested their effects on hemoglobin expression. EKLF-GATA1 fusion proteins activated δ-, γ-, and β-globin promoters in K562 cells, and significantly up-regulated δ- and γ-globin RNA transcript and protein expression in K562 and/or CD34(+) cells. The binding of EKLF-GATA1 fusion proteins at the GATA1 consensus site in the δ-globin promoter was confirmed by chromatin immunoprecipitation assay. Our studies demonstrate that EKLF-GATA1 fusion proteins can enhance δ-globin expression through interaction with the δ-globin promoter, and may represent a new genetic therapeutic approach to β-hemoglobinopathies.

Publication types

  • Research Support, N.I.H., Intramural

MeSH terms

  • Antigens, CD34 / metabolism
  • Base Sequence
  • Erythroid Cells / metabolism*
  • GATA1 Transcription Factor / metabolism*
  • Genes, Reporter
  • Humans
  • K562 Cells
  • Kruppel-Like Transcription Factors / metabolism*
  • Molecular Sequence Data
  • Promoter Regions, Genetic / genetics
  • Protein Binding
  • Recombinant Fusion Proteins / metabolism*
  • Up-Regulation / genetics*
  • delta-Globins / genetics*
  • gamma-Globins / genetics*

Substances

  • Antigens, CD34
  • GATA1 Transcription Factor
  • GATA1 protein, human
  • Kruppel-Like Transcription Factors
  • Recombinant Fusion Proteins
  • delta-Globins
  • erythroid Kruppel-like factor
  • gamma-Globins